Charcot-Marie-Tooth disease, Type 2D

Known as: Charcot-Marie-Tooth Neuropathy, Type 2d, Charcot-Marie-Tooth Disease Type 2D, Charcot-Marie-Tooth disease, neuronal, Type 2D 
Charcot-Marie-Tooth disease inherited in an autosomal dominant pattern. It is caused by mutations in the GARS gene. It results in axonal peripheral… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1996-2018
02419962018

Papers overview

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2014
2014
Dominant mutations in GARS, encoding the essential enzyme glycyl-tRNA synthetase (GlyRS), result in a form of Charcot-Marie-Tooth… (More)
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2014
2014
BACKGROUND Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy; symptoms include distal wasting and weakness… (More)
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2011
2011
Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the… (More)
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2010
2010
Charcot–Marie–Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are autosomal dominant neuropathy… (More)
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Highly Cited
2006
Highly Cited
2006
Of the many inherited Charcot-Marie-Tooth peripheral neuropathies, type 2D (CMT2D) is caused by dominant point mutations in the… (More)
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Highly Cited
2003
Highly Cited
2003
Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies… (More)
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2002
2002
Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal dominant… (More)
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Highly Cited
2000
Highly Cited
2000
Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. The axonal form of the disease is… (More)
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1998
1998
Two separate disorders, autosomal dominant distal spinal muscular atrophy type V (dSMA-V) characterized by marked bilateral… (More)
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Highly Cited
1998
Highly Cited
1998
Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy (HMSN), is a clinically and genetically… (More)
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